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Pfeiffer syndrome is caused by mutations in the fibroblast growth factor receptors FGFR1 and FGFR2. The syndrome is grouped into three types: type 1 (classic Pfeiffer syndrome) is milder and caused by mutations in either gene; types 2 and 3 are more severe, often leading to death in infancy, caused by mutations in FGFR2 .
Glandular fever, Pfeiffer's disease, Filatov's disease, kissing disease: Swollen lymph nodes in the neck of a person with infectious mononucleosis: Specialty: Infectious disease: Symptoms: Fever, sore throat, enlarged lymph nodes in the neck, fatigue: Complications: Swelling of the liver or spleen: Duration: 2–4 weeks: Causes
Carpenter syndrome, also called acrocephalopolysyndactyly type II, is an extremely rare autosomal recessive congenital disorder characterized by craniofacial malformations, obesity, syndactyly, and polydactyly.
Causes Genetic mutations; C to G mutation at the position 755 in the FGFR2 gene (two-thirds of cases) Apert syndrome is a form of acrocephalosyndactyly , a congenital disorder characterized by malformations of the skull, face, hands and feet.
Holden is one of 1 in 100,000 children born with a genetic disorder called Pfeiffer syndrome. It is associated with more than 25 mutations on one of two fibroblast growth factor receptor genes.
The syndrome is caused by a mutation in a gene on chromosome 10 that controls the body's production of fibroblast growth factor receptor 2 (FGFR2). Crouzon syndrome is named for Octave Crouzon, a French physician who first described this disorder.
An activating mutation in FGFR1 viz., P232R (proline-to-arginine substitution in the protein's 232nd amino acid), is responsible for the Type 1 or classic form of Pfeiffer syndrome, a disease characterized by craniosynostosis and mid-face deformities. A tyrosine-to-cysteine substitution mutation in the 372nd amino acid of FGFR1 (Y372C) is ...
Cardiocranial syndrome, Pfeiffer type is a rare multiple disorder syndrome characterized by congenital heart defects, sagittal craniosynostosis, and severe developmental delay. The condition has been reported in less than 10 patients worldwide. Signs and symptoms. Features of this condition include: Abnormal heart morphology
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Jackson–Weiss syndrome; Other names: Craniosynostosis, midfacial hypoplasia, and foot abnormalities : Jackson–Weiss syndrome is inherited in an autosomal dominant pattern: Symptoms: Hypertelorism: Causes: Mutations in the FGFR2 gene : Diagnostic method: Genetic testing: Treatment: Surgery